Journal ArticleDOI
Hereditary orotic aciduria.
TLDR
Replacement therapy with uridine achieved a striking clinical and haematological remission and is important in preventing the occurrence of mental retardation.Abstract:
SYNOPSIS
A case of orotic aciduria is reported and the clinical features reviewed. Replacement therapy with uridine achieved a striking clinical and haematological remission. Early diagnosis is important in preventing the occurrence of mental retardation.read more
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Journal ArticleDOI
Combined immunodeficiency disease associated with adenosine deaminase deficiency. Report on a workshop held in Albany, New York, October 1, 1973.
Hilaire J. Meuwissen,Bernard Pollara,Richard J. Pickering,Arthur J. Ammann,D. Biggar,P. Brunell,Rebecca H. Buckley,Flossie Cohen,V. Cross,J. Dissing,Eloise R. Giblett,C. Griscelli,R. Hirschhorn,Richard Hong,J. Huber,R. Keightley,John H. Kersey,J. de Koning,H. Lischner,W. Los,E. C. Moore,HansD. Ochs,Lauren M. Pachman,B. Parks,Fred S. Rosen,D. Singer,M.A. South,Diane W. Wara,J. Wolfson +28 more
TL;DR: TheThymus glands of all patients with CID and ADA deficiency who could be examined have evidence of thymic involution manifested by presence of Hassall's corpuscles and differentiated germinal epithelium; this is in contrast to "classic" thymus findings in CID with normal ADA.
Journal ArticleDOI
Phosphoribosylpyrophosphate in Man: Biochemical and Clinical Significance
Irving H. Fox,William N. Kelley +1 more
TL;DR: The intracellular concentration of phosphoribosylpyrophosphate, a high-energy 1,5-substituted ribose sugar, has been demonstrated to have a critical role in the regulation of purine levels in the cell.
Journal ArticleDOI
Thiamine-responsive megaloblastic anemia
TL;DR: Thiamine blood levels and activities of 3 thiamine-dependent enzymes of the patient's blood cells were normal, excluding a generalized defect of thiamines metabolism, and the patient appeared to have a thiamin-dependent megaloblastic anemia, the first demonstration of a role for this vitamin in DNA metabolism.
Journal ArticleDOI
Gas-chromatographic method of analysis for urinary organic acids. I. Retention indices of 155 metabolically important compounds.
TL;DR: With the data presented here, it is now possible to diagnose more than 25 well-defined organic acidurias by use of gas chromatography alone and to facilitate the use of the methylene-unit list.
Journal ArticleDOI
Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man
TL;DR: Examination of various physical and chemical properties of the A-PRTase obtained from the mutant heterozygotes failed to reveal differences from the normal enzyme and possible manifestations of the homozygous form of this enzyme deficiency will require identification of such individuals in the future.
References
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Journal ArticleDOI
Refractory megaloblastic anemia associated with excretion of orotic acid.
TL;DR: A case is presented of a child who had a megaloblastic anemia which was not responsive to vitamin B 12 nor to folic acid, but there was no response to iron or to pyridoxine, and before further studies could be made the child died of severe varicella.
Journal Article
Hereditary orotic aciduria: ii. a urinary screening test
Lon E. Rogers,F. Stanley Porter +1 more
TL;DR: A urinary screening test for hereditary orotic aciduria is described in this paper, which is based upon the conversion of OO to barbituric acid by the action of saturated bromine water and subsequent reduction by ascorbic acid.
Journal ArticleDOI
Hereditary Orotic Aciduria and Megaloblastic Anaemia: A Second Case, with Response to Uridine
D. M. O. Becroft,L. I. Phillips +1 more
TL;DR: The standards by which residency training, programmes are organized, and against which they are evaluated by the Review Committees, are published by the Council as the Essentials of Approved Residencies.
Journal ArticleDOI
Orotic aciduria:Differing enzyme patterns
TL;DR: This is the first report of a patient with orotic aciduria solely due to the lack of orotidylic decarboxylase.
Journal ArticleDOI
Hereditary orotic aciduria i. a new case with family studies
TL;DR: Previously undescribed studies of liver revealed the enzymatic deficiency in this tissue as well, and four generations of the patient9s family were evaluated with erythrocyte enzyme assays and with a urinary screening test developed during the course of these studies.